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Cushing's syndrome- familial

Overview

Cushing's syndrome, familial: A hormonal disorder caused by high levels of the cortisol hormone due to the abnormal development of the adrenal gland. Most cases of Cushing's syndrome are not inherited. Rarely, however, Cushing's syndrome results from an inherited tendency to develop tumors of one or more endocrine glands.

Cushing's disease is a form of Cushing's syndrome, in which excess cortisol production is triggered by an adrenocorticotropic hormone (ACTH)-secreting pituitary adenoma.

Symptoms - Cushing's syndrome- familial

Signs and symptoms of Cushing's syndrome vary, but most people with the disorder have upper body obesity, a rounded face, increased fat around the neck, and relatively slender arms and legs. Children tend to be obese with slowed growth rates.

Other signs appear in the skin, which becomes fragile and thin, bruises easily, and heals poorly. Purple or pink stretch marks may appear on the abdomen, thighs, buttocks, arms, and breasts. The bones are weakened, and routine activities such as bending, lifting, or rising from a chair may lead to backaches and rib or spinal column fractures.

Women with Cushing's syndrome usually have excess hair growth on their face, neck, chest, abdomen, and thighs. Their menstrual periods may become irregular or stop. Men may have decreased fertility with diminished or absent desire for sex and, sometimes, erectile dysfunction.

Other common signs and symptoms include

• severe fatigue

• weak muscles

• high blood pressure

• high blood glucose

• increased thirst and urination

• irritability, anxiety, or depression

• a fatty hump between the shoulders

Sometimes other conditions have many of the same signs as Cushing's syndrome, even though people with these disorders do not have abnormally elevated cortisol levels. For example, polycystic ovary syndrome can cause menstrual disturbances, weight gain beginning in adolescence, excess hair growth, and impaired insulin action and diabetes. Metabolic syndrome-a combination of problems that includes excess weight around the waist, high blood pressure, abnormal levels of cholesterol and triglycerides in the blood, and insulin resistance-also mimics the symptoms of Cushing's syndrome.

 

Source: National Endocrine and Metabolic Diseases Information Service

Causes - Cushing's syndrome- familial

In approximately 70% of patients, Cushing’s syndrome results from excessive production of corticotropin and consequent hyperplasia of the adrenal cortex. Overproduction of corticotropin may stem from pituitary hypersecretion (Cushing’s disease), a corticotropin-producing tumor in another organ (particularly bronchogenic or pancreatic cancer), or excessive administration of exogenous glucocorticoids. In the remaining 30% of patients, Cushing’s syndrome results from a cortisol-secreting adrenal tumor, which is usually benign. In infants, the usual cause of Cushing’s syndrome is adrenal carcinoma. Cushing’s syndrome affects 13 of every 1 million people. It’s more common in females than in males and occurs primarily between ages between ages 25 and 40.

Prevention - Cushing's syndrome- familial

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Diagnosis - Cushing's syndrome- familial

The phrase \"signs of Cushing's syndrome, familial\" should, strictly speaking, refer only to those signs and symptoms of Cushing's syndrome, familial that are not readily apparent to the patient. The word \"symptoms of Cushing syndrome, familial\" is the more general meaning; see symptoms of Cushing's syndrome, familial. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Cushing syndrome, familial. This medical information about signs and symptoms for Cushing's syndrome, familial has been gathered from various sources, may not be fully accurate, and may not be the full list of Cushing's syndrome, familial signs or Cushing's syndrome, familial symptoms. Furthermore, signs and symptoms of Cushing's syndrome, familial may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Cushing's syndrome, familial symptoms.

Prognosis - Cushing's syndrome- familial

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Treatment - Cushing's syndrome- familial

Treatment to restore hormone balance and reverse Cushing’s syndrome may necessitate radiation, drug therapy, or surgery. For example, pituitary-dependent Cushing’s syndrome with adrenal hyperplasia and severe cushingoid symptoms (such as psychosis, poorly controlled diabetes mellitus, osteoporosis, and severe pathologic fractures) may require partial or complete hypophysectomy or pituitary irradiation. If the patient fails to respond, bilateral adrenalectomy may be performed. Nonendocrine corticotropin-producing tumors require excision of the tumor, followed by drug therapy (for example, with mitotane, metyrapone, or aminoglutethimide) to decrease cortisol levels if symptoms persist. Aminoglutethimide and ketoconazole decrease cortisol levels and have been beneficial for many cushingoid patients. Aminoglutethimide alone, or in combination with metyrapone, may also be useful in metastatic adrenal carcinoma. Before surgery, the patient with cushingoid symptoms should have special management to control hypertension, edema, diabetes, and cardiovascular manifestations and to prevent infection. Glucocorticoid administration on the morning of surgery can help prevent acute adrenal hypofunction during surgery. Cortisol therapy is essential during and after surgery, to help the patient tolerate the physiologic stress imposed by removal of the pituitary or adrenals. If normal cortisol production resumes, steroid therapy may be gradually tapered and eventually discontinued. However, bilateral adrenalectomy or total hypophysectomy mandates lifelong steroid replacement therapy to correct hormonal deficiencies.

Resources - Cushing's syndrome- familial

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